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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WNK1
(S114I)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2C
+2 more
GUncertain significance
WNK1
(S289P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
WNK1
(V536L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
WNK1
(G612S)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2C
+3 more
GConflicting classifications of pathogenicity
WNK1
(R715C)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoaldosteronism type 2C
+3 more
GUncertain significance
WNK1
(R784H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
WNK1
(R760C +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GConflicting classifications of pathogenicity
WNK1
(L869I +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 2A
+3 more
GConflicting classifications of pathogenicity
WNK1
(A841V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WNK1
(R945W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
WNK1
(S895I +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoaldosteronism type 2C
+4 more
GConflicting classifications of pathogenicity
WNK1
(A1036V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
WNK1
(P1037S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
WNK1
(V1168A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNK1
(Q1276R +3 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2C
+2 more
GUncertain significance
WNK1
(P893A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WNK1
(Q895H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WNK1
(S1224Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
WNK1
(N1083S +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WNK1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GUncertain significance
WNK1
(S1445N +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
WNK1
(P1583T +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WNK1
(G1144D +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WNK1
(I1169T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
WNK1
Deletion
(inframe_deletion)
Inborn genetic diseases
+3 more
GUncertain significance
WNK1
(T1730I +3 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2C
+3 more
GConflicting classifications of pathogenicity
WNK1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
WNK1
(A1821V +3 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2C
+3 more
GUncertain significance
WNK1
(S1601N +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WNK1
(P1907L +3 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2C
+3 more
GConflicting classifications of pathogenicity
WNK1
(R1709H +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
WNK1
(S2460R +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
WNK1
(P1987L +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WNK1
(G2053A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WNK1
(P2081L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
WNK1
(G2341S +3 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism type 2C
+3 more
GConflicting classifications of pathogenicity
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